JAK2

Frequency / Number of samples

1 survey / 8 samples per survey (DNA in TE buffer)

Tests

Molecular genetic analysis; variant screening of the JAK2 gene

Kennedy’s Disease

This is a sample exchange program where participating laboratories provide specimens to RCPAQAP, which will be de-identified, re-labelled and distributed. This program assesses laboratory performance in the detection of mutations in the androgen receptor (AR) gene.

Frequency / Number of samples

1 survey / 3 samples per survey (DNA in TE buffer)

Tests

Molecular genetic analysis; Mutation screening of the AR gene

Maternal Cell Contamination

This module qualitatively and quantitatively assesses laboratory performance in the detection and interpretation of maternal cell contamination in prenatal samples.

Frequency / Number of samples

1 survey / 3 family trios (DNA in TE buffer)

Tests

Maternal cell contamination studies

MGMT Hypermethylation

This is a sample exchange program where participating laboratories provide specimens to RCPAQAP, which will be de-identified, re-labelled and distributed. This program assesses laboratory performance in the detection of Methylguanine-DNA Methyltransferase (MGMT) gene promoter methylation.